SNP Links for Protein (Select 555943924) - SNP

Links from Protein

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Select item 14886984821.

rs1488698482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:4507955 (GRCh38)
16:4557956 (GRCh37)
Canonical SPDI:: NC_000016.10:4507954:G:A,NC_000016.10:4507954:G:C
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.4507955G>A, NC_000016.10:g.4507955G>C, NC_000016.9:g.4557956G>A, NC_000016.9:g.4557956G>C, NT_187608.1:g.210278G>A, NT_187608.1:g.210278G>C, NM_002134.4:c.447G>A, NM_002134.4:c.447G>C, NM_002134.3:c.447G>A, NM_002134.3:c.447G>C, XM_017023196.3:c.447G>A, XM_017023196.3:c.447G>C, XM_017023196.2:c.447G>A, XM_017023196.2:c.447G>C, XM_017023196.1:c.447G>A, XM_017023196.1:c.447G>C, NM_001127206.3:c.447G>A, NM_001127206.3:c.447G>C, NM_001127206.2:c.447G>A, NM_001127206.2:c.447G>C, NM_001127206.1:c.447G>A, NM_001127206.1:c.447G>C, NM_001127204.2:c.447G>A, NM_001127204.2:c.447G>C, NM_001127204.1:c.447G>A, NM_001127204.1:c.447G>C, NM_001286268.2:c.447G>A, NM_001286268.2:c.447G>C, NM_001286268.1:c.447G>A, NM_001286268.1:c.447G>C, NM_001286269.2:c.447G>A, NM_001286269.2:c.447G>C, NM_001286269.1:c.447G>A, NM_001286269.1:c.447G>C, NM_001127205.2:c.447G>A, NM_001127205.2:c.447G>C, NM_001127205.1:c.447G>A, NM_001127205.1:c.447G>C, XM_024450250.2:c.447G>A, XM_024450250.2:c.447G>C, XM_024450250.1:c.447G>A, XM_024450250.1:c.447G>C, NM_001286271.2:c.360G>A, NM_001286271.2:c.360G>C, NM_001286271.1:c.360G>A, NM_001286271.1:c.360G>C, NM_001286270.2:c.447G>A, NM_001286270.2:c.447G>C, NM_001286270.1:c.447G>A, NM_001286270.1:c.447G>C, NM_001286267.1:c.609G>A, NM_001286267.1:c.609G>C, NM_001286267.2:c.609G>A, NM_001286267.2:c.609G>C

Select item 14873792992.

rs1487379299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4506982 (GRCh38)
16:4556983 (GRCh37)
Canonical SPDI:: NC_000016.10:4506981:G:A
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.4506982G>A, NC_000016.9:g.4556983G>A, NT_187608.1:g.209305G>A, NM_002134.4:c.174G>A, NM_002134.3:c.174G>A, XM_017023196.3:c.174G>A, XM_017023196.2:c.174G>A, XM_017023196.1:c.174G>A, NM_001127206.3:c.174G>A, NM_001127206.2:c.174G>A, NM_001127206.1:c.174G>A, NM_001127204.2:c.174G>A, NM_001127204.1:c.174G>A, NM_001286268.2:c.174G>A, NM_001286268.1:c.174G>A, NM_001286269.2:c.174G>A, NM_001286269.1:c.174G>A, NM_001127205.2:c.174G>A, NM_001127205.1:c.174G>A, XM_024450250.2:c.174G>A, XM_024450250.1:c.174G>A, NM_001286271.2:c.87G>A, NM_001286271.1:c.87G>A, NM_001286270.2:c.174G>A, NM_001286270.1:c.174G>A, NM_001286267.1:c.336G>A, NM_001286267.2:c.336G>A

Select item 14867894803.

rs1486789480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:4509437 (GRCh38)
16:4559438 (GRCh37)
Canonical SPDI:: NC_000016.10:4509436:G:C
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4509437G>C, NC_000016.9:g.4559438G>C, NT_187608.1:g.211760G>C, NM_002134.4:c.722G>C, NM_002134.3:c.722G>C, XM_017023196.3:c.722G>C, XM_017023196.2:c.722G>C, XM_017023196.1:c.722G>C, NM_001127206.3:c.722G>C, NM_001127206.2:c.722G>C, NM_001127206.1:c.722G>C, NM_001127204.2:c.722G>C, NM_001127204.1:c.722G>C, NM_001286268.2:c.722G>C, NM_001286268.1:c.722G>C, NM_001286269.2:c.722G>C, NM_001286269.1:c.722G>C, NM_001127205.2:c.722G>C, NM_001127205.1:c.722G>C, XM_024450250.2:c.722G>C, XM_024450250.1:c.722G>C, NM_001286271.2:c.635G>C, NM_001286271.1:c.635G>C, NM_001286270.2:c.722G>C, NM_001286270.1:c.722G>C, NM_001286267.1:c.884G>C, NM_001286267.2:c.884G>C, NP_002125.3:p.Gly241Ala, XP_016878685.1:p.Gly241Ala, NP_001120678.1:p.Gly241Ala, NP_001120676.1:p.Gly241Ala, NP_001273197.1:p.Gly241Ala, NP_001273198.1:p.Gly241Ala, NP_001120677.1:p.Gly241Ala, XP_024306018.1:p.Gly241Ala, NP_001273200.1:p.Gly212Ala, NP_001273199.1:p.Gly241Ala, NP_001273196.1:p.Gly295Ala

Select item 14857381334.

rs1485738133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4508042 (GRCh38)
16:4558043 (GRCh37)
Canonical SPDI:: NC_000016.10:4508041:C:T
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4508042C>T, NC_000016.9:g.4558043C>T, NT_187608.1:g.210365C>T, NM_002134.4:c.534C>T, NM_002134.3:c.534C>T, XM_017023196.3:c.534C>T, XM_017023196.2:c.534C>T, XM_017023196.1:c.534C>T, NM_001127206.3:c.534C>T, NM_001127206.2:c.534C>T, NM_001127206.1:c.534C>T, NM_001127204.2:c.534C>T, NM_001127204.1:c.534C>T, NM_001286268.2:c.534C>T, NM_001286268.1:c.534C>T, NM_001286269.2:c.534C>T, NM_001286269.1:c.534C>T, NM_001127205.2:c.534C>T, NM_001127205.1:c.534C>T, XM_024450250.2:c.534C>T, XM_024450250.1:c.534C>T, NM_001286271.2:c.447C>T, NM_001286271.1:c.447C>T, NM_001286270.2:c.534C>T, NM_001286270.1:c.534C>T, NM_001286267.1:c.696C>T, NM_001286267.2:c.696C>T

Select item 14800952575.

rs1480095257 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:4509453 (GRCh38)
16:4559454 (GRCh37)
Canonical SPDI:: NC_000016.10:4509452:A:G
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4509453A>G, NC_000016.9:g.4559454A>G, NT_187608.1:g.211776A>G, NM_002134.4:c.738A>G, NM_002134.3:c.738A>G, XM_017023196.3:c.738A>G, XM_017023196.2:c.738A>G, XM_017023196.1:c.738A>G, NM_001127206.3:c.738A>G, NM_001127206.2:c.738A>G, NM_001127206.1:c.738A>G, NM_001127204.2:c.738A>G, NM_001127204.1:c.738A>G, NM_001286268.2:c.738A>G, NM_001286268.1:c.738A>G, NM_001286269.2:c.738A>G, NM_001286269.1:c.738A>G, NM_001127205.2:c.738A>G, NM_001127205.1:c.738A>G, XM_024450250.2:c.738A>G, XM_024450250.1:c.738A>G, NM_001286271.2:c.651A>G, NM_001286271.1:c.651A>G, NM_001286270.2:c.738A>G, NM_001286270.1:c.738A>G, NM_001286267.1:c.900A>G, NM_001286267.2:c.900A>G

Select item 14767898396.

rs1476789839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:4508200 (GRCh38)
16:4558201 (GRCh37)
Canonical SPDI:: NC_000016.10:4508199:T:C
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.4508200T>C, NC_000016.9:g.4558201T>C, NT_187608.1:g.210523T>C, NM_002134.4:c.692T>C, NM_002134.3:c.692T>C, XM_017023196.3:c.692T>C, XM_017023196.2:c.692T>C, XM_017023196.1:c.692T>C, NM_001127206.3:c.692T>C, NM_001127206.2:c.692T>C, NM_001127206.1:c.692T>C, NM_001127204.2:c.692T>C, NM_001127204.1:c.692T>C, NM_001286268.2:c.692T>C, NM_001286268.1:c.692T>C, NM_001286269.2:c.692T>C, NM_001286269.1:c.692T>C, NM_001127205.2:c.692T>C, NM_001127205.1:c.692T>C, XM_024450250.2:c.692T>C, XM_024450250.1:c.692T>C, NM_001286271.2:c.605T>C, NM_001286271.1:c.605T>C, NM_001286270.2:c.692T>C, NM_001286270.1:c.692T>C, NM_001286267.1:c.854T>C, NM_001286267.2:c.854T>C, NP_002125.3:p.Met231Thr, XP_016878685.1:p.Met231Thr, NP_001120678.1:p.Met231Thr, NP_001120676.1:p.Met231Thr, NP_001273197.1:p.Met231Thr, NP_001273198.1:p.Met231Thr, NP_001120677.1:p.Met231Thr, XP_024306018.1:p.Met231Thr, NP_001273200.1:p.Met202Thr, NP_001273199.1:p.Met231Thr, NP_001273196.1:p.Met285Thr

Select item 14721376877.

rs1472137687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:4508128 (GRCh38)
16:4558129 (GRCh37)
Canonical SPDI:: NC_000016.10:4508127:A:G
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4508128A>G, NC_000016.9:g.4558129A>G, NT_187608.1:g.210451A>G, NM_002134.4:c.620A>G, NM_002134.3:c.620A>G, XM_017023196.3:c.620A>G, XM_017023196.2:c.620A>G, XM_017023196.1:c.620A>G, NM_001127206.3:c.620A>G, NM_001127206.2:c.620A>G, NM_001127206.1:c.620A>G, NM_001127204.2:c.620A>G, NM_001127204.1:c.620A>G, NM_001286268.2:c.620A>G, NM_001286268.1:c.620A>G, NM_001286269.2:c.620A>G, NM_001286269.1:c.620A>G, NM_001127205.2:c.620A>G, NM_001127205.1:c.620A>G, XM_024450250.2:c.620A>G, XM_024450250.1:c.620A>G, NM_001286271.2:c.533A>G, NM_001286271.1:c.533A>G, NM_001286270.2:c.620A>G, NM_001286270.1:c.620A>G, NM_001286267.1:c.782A>G, NM_001286267.2:c.782A>G, NP_002125.3:p.Asn207Ser, XP_016878685.1:p.Asn207Ser, NP_001120678.1:p.Asn207Ser, NP_001120676.1:p.Asn207Ser, NP_001273197.1:p.Asn207Ser, NP_001273198.1:p.Asn207Ser, NP_001120677.1:p.Asn207Ser, XP_024306018.1:p.Asn207Ser, NP_001273200.1:p.Asn178Ser, NP_001273199.1:p.Asn207Ser, NP_001273196.1:p.Asn261Ser

Select item 14703263508.

rs1470326350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4508047 (GRCh38)
16:4558048 (GRCh37)
Canonical SPDI:: NC_000016.10:4508046:C:T
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.4508047C>T, NC_000016.9:g.4558048C>T, NT_187608.1:g.210370C>T, NM_002134.4:c.539C>T, NM_002134.3:c.539C>T, XM_017023196.3:c.539C>T, XM_017023196.2:c.539C>T, XM_017023196.1:c.539C>T, NM_001127206.3:c.539C>T, NM_001127206.2:c.539C>T, NM_001127206.1:c.539C>T, NM_001127204.2:c.539C>T, NM_001127204.1:c.539C>T, NM_001286268.2:c.539C>T, NM_001286268.1:c.539C>T, NM_001286269.2:c.539C>T, NM_001286269.1:c.539C>T, NM_001127205.2:c.539C>T, NM_001127205.1:c.539C>T, XM_024450250.2:c.539C>T, XM_024450250.1:c.539C>T, NM_001286271.2:c.452C>T, NM_001286271.1:c.452C>T, NM_001286270.2:c.539C>T, NM_001286270.1:c.539C>T, NM_001286267.1:c.701C>T, NM_001286267.2:c.701C>T, NP_002125.3:p.Thr180Ile, XP_016878685.1:p.Thr180Ile, NP_001120678.1:p.Thr180Ile, NP_001120676.1:p.Thr180Ile, NP_001273197.1:p.Thr180Ile, NP_001273198.1:p.Thr180Ile, NP_001120677.1:p.Thr180Ile, XP_024306018.1:p.Thr180Ile, NP_001273200.1:p.Thr151Ile, NP_001273199.1:p.Thr180Ile, NP_001273196.1:p.Thr234Ile

Select item 14690630849.

rs1469063084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:4505575 (GRCh38)
16:4555576 (GRCh37)
Canonical SPDI:: NC_000016.10:4505574:G:T
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.4505575G>T, NC_000016.9:g.4555576G>T, NT_187608.1:g.207898G>T, NM_002134.4:c.51G>T, NM_002134.3:c.51G>T, XM_017023196.3:c.51G>T, XM_017023196.2:c.51G>T, XM_017023196.1:c.51G>T, NM_001127206.3:c.51G>T, NM_001127206.2:c.51G>T, NM_001127206.1:c.51G>T, NM_001127204.2:c.51G>T, NM_001127204.1:c.51G>T, NM_001286268.2:c.51G>T, NM_001286268.1:c.51G>T, NM_001286269.2:c.51G>T, NM_001286269.1:c.51G>T, NM_001127205.2:c.51G>T, NM_001127205.1:c.51G>T, XM_024450250.2:c.51G>T, XM_024450250.1:c.51G>T, NM_001286270.2:c.51G>T, NM_001286270.1:c.51G>T, NM_001286267.1:c.213G>T, NM_001286267.2:c.213G>T, NP_002125.3:p.Lys17Asn, XP_016878685.1:p.Lys17Asn, NP_001120678.1:p.Lys17Asn, NP_001120676.1:p.Lys17Asn, NP_001273197.1:p.Lys17Asn, NP_001273198.1:p.Lys17Asn, NP_001120677.1:p.Lys17Asn, XP_024306018.1:p.Lys17Asn, NP_001273199.1:p.Lys17Asn, NP_001273196.1:p.Lys71Asn

Select item 146663301110.

rs1466633011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4507818 (GRCh38)
16:4557819 (GRCh37)
Canonical SPDI:: NC_000016.10:4507817:C:T
Gene:: HMOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4507818C>T, NC_000016.9:g.4557819C>T, NT_187608.1:g.210141C>T, NM_002134.4:c.310C>T, NM_002134.3:c.310C>T, XM_017023196.3:c.310C>T, XM_017023196.2:c.310C>T, XM_017023196.1:c.310C>T, NM_001127206.3:c.310C>T, NM_001127206.2:c.310C>T, NM_001127206.1:c.310C>T, NM_001127204.2:c.310C>T, NM_001127204.1:c.310C>T, NM_001286268.2:c.310C>T, NM_001286268.1:c.310C>T, NM_001286269.2:c.310C>T, NM_001286269.1:c.310C>T, NM_001127205.2:c.310C>T, NM_001127205.1:c.310C>T, XM_024450250.2:c.310C>T, XM_024450250.1:c.310C>T, NM_001286271.2:c.223C>T, NM_001286271.1:c.223C>T, NM_001286270.2:c.310C>T, NM_001286270.1:c.310C>T, NM_001286267.1:c.472C>T, NM_001286267.2:c.472C>T, NP_002125.3:p.His104Tyr, XP_016878685.1:p.His104Tyr, NP_001120678.1:p.His104Tyr, NP_001120676.1:p.His104Tyr, NP_001273197.1:p.His104Tyr, NP_001273198.1:p.His104Tyr, NP_001120677.1:p.His104Tyr, XP_024306018.1:p.His104Tyr, NP_001273200.1:p.His75Tyr, NP_001273199.1:p.His104Tyr, NP_001273196.1:p.His158Tyr

Select item 146403158011.

rs1464031580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:4508133 (GRCh38)
16:4558134 (GRCh37)
Canonical SPDI:: NC_000016.10:4508132:C:G,NC_000016.10:4508132:C:T
Gene:: HMOX2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4508133C>G, NC_000016.10:g.4508133C>T, NC_000016.9:g.4558134C>G, NC_000016.9:g.4558134C>T, NT_187608.1:g.210456C>G, NT_187608.1:g.210456C>T, NM_002134.4:c.625C>G, NM_002134.4:c.625C>T, NM_002134.3:c.625C>G, NM_002134.3:c.625C>T, XM_017023196.3:c.625C>G, XM_017023196.3:c.625C>T, XM_017023196.2:c.625C>G, XM_017023196.2:c.625C>T, XM_017023196.1:c.625C>G, XM_017023196.1:c.625C>T, NM_001127206.3:c.625C>G, NM_001127206.3:c.625C>T, NM_001127206.2:c.625C>G, NM_001127206.2:c.625C>T, NM_001127206.1:c.625C>G, NM_001127206.1:c.625C>T, NM_001127204.2:c.625C>G, NM_001127204.2:c.625C>T, NM_001127204.1:c.625C>G, NM_001127204.1:c.625C>T, NM_001286268.2:c.625C>G, NM_001286268.2:c.625C>T, NM_001286268.1:c.625C>G, NM_001286268.1:c.625C>T, NM_001286269.2:c.625C>G, NM_001286269.2:c.625C>T, NM_001286269.1:c.625C>G, NM_001286269.1:c.625C>T, NM_001127205.2:c.625C>G, NM_001127205.2:c.625C>T, NM_001127205.1:c.625C>G, NM_001127205.1:c.625C>T, XM_024450250.2:c.625C>G, XM_024450250.2:c.625C>T, XM_024450250.1:c.625C>G, XM_024450250.1:c.625C>T, NM_001286271.2:c.538C>G, NM_001286271.2:c.538C>T, NM_001286271.1:c.538C>G, NM_001286271.1:c.538C>T, NM_001286270.2:c.625C>G, NM_001286270.2:c.625C>T, NM_001286270.1:c.625C>G, NM_001286270.1:c.625C>T, NM_001286267.1:c.787C>G, NM_001286267.1:c.787C>T, NM_001286267.2:c.787C>G, NM_001286267.2:c.787C>T, NP_002125.3:p.Leu209Val, XP_016878685.1:p.Leu209Val, NP_001120678.1:p.Leu209Val, NP_001120676.1:p.Leu209Val, NP_001273197.1:p.Leu209Val, NP_001273198.1:p.Leu209Val, NP_001120677.1:p.Leu209Val, XP_024306018.1:p.Leu209Val, NP_001273200.1:p.Leu180Val, NP_001273199.1:p.Leu209Val, NP_001273196.1:p.Leu263Val

Select item 145987716912.

rs1459877169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4507728 (GRCh38)
16:4557729 (GRCh37)
Canonical SPDI:: NC_000016.10:4507727:C:T
Gene:: HMOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4507728C>T, NC_000016.9:g.4557729C>T, NT_187608.1:g.210051C>T, NM_002134.4:c.220C>T, NM_002134.3:c.220C>T, XM_017023196.3:c.220C>T, XM_017023196.2:c.220C>T, XM_017023196.1:c.220C>T, NM_001127206.3:c.220C>T, NM_001127206.2:c.220C>T, NM_001127206.1:c.220C>T, NM_001127204.2:c.220C>T, NM_001127204.1:c.220C>T, NM_001286268.2:c.220C>T, NM_001286268.1:c.220C>T, NM_001286269.2:c.220C>T, NM_001286269.1:c.220C>T, NM_001127205.2:c.220C>T, NM_001127205.1:c.220C>T, XM_024450250.2:c.220C>T, XM_024450250.1:c.220C>T, NM_001286271.2:c.133C>T, NM_001286271.1:c.133C>T, NM_001286270.2:c.220C>T, NM_001286270.1:c.220C>T, NM_001286267.1:c.382C>T, NM_001286267.2:c.382C>T, NP_002125.3:p.Leu74Phe, XP_016878685.1:p.Leu74Phe, NP_001120678.1:p.Leu74Phe, NP_001120676.1:p.Leu74Phe, NP_001273197.1:p.Leu74Phe, NP_001273198.1:p.Leu74Phe, NP_001120677.1:p.Leu74Phe, XP_024306018.1:p.Leu74Phe, NP_001273200.1:p.Leu45Phe, NP_001273199.1:p.Leu74Phe, NP_001273196.1:p.Leu128Phe

Select item 145726994113.

rs1457269941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:4507782 (GRCh38)
16:4557783 (GRCh37)
Canonical SPDI:: NC_000016.10:4507781:C:G
Gene:: HMOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4507782C>G, NC_000016.9:g.4557783C>G, NT_187608.1:g.210105C>G, NM_002134.4:c.274C>G, NM_002134.3:c.274C>G, XM_017023196.3:c.274C>G, XM_017023196.2:c.274C>G, XM_017023196.1:c.274C>G, NM_001127206.3:c.274C>G, NM_001127206.2:c.274C>G, NM_001127206.1:c.274C>G, NM_001127204.2:c.274C>G, NM_001127204.1:c.274C>G, NM_001286268.2:c.274C>G, NM_001286268.1:c.274C>G, NM_001286269.2:c.274C>G, NM_001286269.1:c.274C>G, NM_001127205.2:c.274C>G, NM_001127205.1:c.274C>G, XM_024450250.2:c.274C>G, XM_024450250.1:c.274C>G, NM_001286271.2:c.187C>G, NM_001286271.1:c.187C>G, NM_001286270.2:c.274C>G, NM_001286270.1:c.274C>G, NM_001286267.1:c.436C>G, NM_001286267.2:c.436C>G, NP_002125.3:p.Pro92Ala, XP_016878685.1:p.Pro92Ala, NP_001120678.1:p.Pro92Ala, NP_001120676.1:p.Pro92Ala, NP_001273197.1:p.Pro92Ala, NP_001273198.1:p.Pro92Ala, NP_001120677.1:p.Pro92Ala, XP_024306018.1:p.Pro92Ala, NP_001273200.1:p.Pro63Ala, NP_001273199.1:p.Pro92Ala, NP_001273196.1:p.Pro146Ala

Select item 144805780214.

rs1448057802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:4509734 (GRCh38)
16:4559735 (GRCh37)
Canonical SPDI:: NC_000016.10:4509733:T:C
Gene:: HMOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4509734T>C, NC_000016.9:g.4559735T>C, NT_187608.1:g.212057T>C, NM_002134.4:c.929T>C, NM_002134.3:c.929T>C, XM_017023196.3:c.929T>C, XM_017023196.2:c.929T>C, XM_017023196.1:c.929T>C, NM_001127206.3:c.929T>C, NM_001127206.2:c.929T>C, NM_001127206.1:c.929T>C, NM_001127204.2:c.929T>C, NM_001127204.1:c.929T>C, NM_001286268.2:c.929T>C, NM_001286268.1:c.929T>C, NM_001286269.2:c.929T>C, NM_001286269.1:c.929T>C, NM_001127205.2:c.929T>C, NM_001127205.1:c.929T>C, XM_024450250.2:c.929T>C, XM_024450250.1:c.929T>C, NM_001286271.2:c.842T>C, NM_001286271.1:c.842T>C, NM_001286270.2:c.929T>C, NM_001286270.1:c.929T>C, NM_001286267.1:c.1091T>C, NM_001286267.2:c.1091T>C, NP_002125.3:p.Leu310Pro, XP_016878685.1:p.Leu310Pro, NP_001120678.1:p.Leu310Pro, NP_001120676.1:p.Leu310Pro, NP_001273197.1:p.Leu310Pro, NP_001273198.1:p.Leu310Pro, NP_001120677.1:p.Leu310Pro, XP_024306018.1:p.Leu310Pro, NP_001273200.1:p.Leu281Pro, NP_001273199.1:p.Leu310Pro, NP_001273196.1:p.Leu364Pro

Select item 144673339215.

rs1446733392 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACTT>- [Show Flanks]
Chromosome:: 16:4507731 (GRCh38)
16:4557732 (GRCh37)
Canonical SPDI:: NC_000016.10:4507726:ACTTTACTT:ACTT
Gene:: HMOX2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: ACTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.4507731_4507735del, NC_000016.9:g.4557732_4557736del, NT_187608.1:g.210054_210058del, NM_002134.4:c.223_227del, NM_002134.3:c.223_227del, XM_017023196.3:c.223_227del, XM_017023196.2:c.223_227del, XM_017023196.1:c.223_227del, NM_001127206.3:c.223_227del, NM_001127206.2:c.223_227del, NM_001127206.1:c.223_227del, NM_001127204.2:c.223_227del, NM_001127204.1:c.223_227del, NM_001286268.2:c.223_227del, NM_001286268.1:c.223_227del, NM_001286269.2:c.223_227del, NM_001286269.1:c.223_227del, NM_001127205.2:c.223_227del, NM_001127205.1:c.223_227del, XM_024450250.2:c.223_227del, XM_024450250.1:c.223_227del, NM_001286271.2:c.136_140del, NM_001286271.1:c.136_140del, NM_001286270.2:c.223_227del, NM_001286270.1:c.223_227del, NM_001286267.1:c.385_389del, NM_001286267.2:c.385_389del, NP_002125.3:p.Tyr75fs, XP_016878685.1:p.Tyr75fs, NP_001120678.1:p.Tyr75fs, NP_001120676.1:p.Tyr75fs, NP_001273197.1:p.Tyr75fs, NP_001273198.1:p.Tyr75fs, NP_001120677.1:p.Tyr75fs, XP_024306018.1:p.Tyr75fs, NP_001273200.1:p.Tyr46fs, NP_001273199.1:p.Tyr75fs, NP_001273196.1:p.Tyr129fs

Select item 144533021716.

rs1445330217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4507811 (GRCh38)
16:4557812 (GRCh37)
Canonical SPDI:: NC_000016.10:4507810:G:A
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.4507811G>A, NC_000016.9:g.4557812G>A, NT_187608.1:g.210134G>A, NM_002134.4:c.303G>A, NM_002134.3:c.303G>A, XM_017023196.3:c.303G>A, XM_017023196.2:c.303G>A, XM_017023196.1:c.303G>A, NM_001127206.3:c.303G>A, NM_001127206.2:c.303G>A, NM_001127206.1:c.303G>A, NM_001127204.2:c.303G>A, NM_001127204.1:c.303G>A, NM_001286268.2:c.303G>A, NM_001286268.1:c.303G>A, NM_001286269.2:c.303G>A, NM_001286269.1:c.303G>A, NM_001127205.2:c.303G>A, NM_001127205.1:c.303G>A, XM_024450250.2:c.303G>A, XM_024450250.1:c.303G>A, NM_001286271.2:c.216G>A, NM_001286271.1:c.216G>A, NM_001286270.2:c.303G>A, NM_001286270.1:c.303G>A, NM_001286267.1:c.465G>A, NM_001286267.2:c.465G>A, NP_002125.3:p.Met101Ile, XP_016878685.1:p.Met101Ile, NP_001120678.1:p.Met101Ile, NP_001120676.1:p.Met101Ile, NP_001273197.1:p.Met101Ile, NP_001273198.1:p.Met101Ile, NP_001120677.1:p.Met101Ile, XP_024306018.1:p.Met101Ile, NP_001273200.1:p.Met72Ile, NP_001273199.1:p.Met101Ile, NP_001273196.1:p.Met155Ile

Select item 144451763417.

rs1444517634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4505610 (GRCh38)
16:4555611 (GRCh37)
Canonical SPDI:: NC_000016.10:4505609:G:A
Gene:: HMOX2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4505610G>A, NC_000016.9:g.4555611G>A, NT_187608.1:g.207933G>A, NM_002134.4:c.86G>A, NM_002134.3:c.86G>A, XM_017023196.3:c.86G>A, XM_017023196.2:c.86G>A, XM_017023196.1:c.86G>A, NM_001127206.3:c.86G>A, NM_001127206.2:c.86G>A, NM_001127206.1:c.86G>A, NM_001127204.2:c.86G>A, NM_001127204.1:c.86G>A, NM_001286268.2:c.86G>A, NM_001286268.1:c.86G>A, NM_001286269.2:c.86G>A, NM_001286269.1:c.86G>A, NM_001127205.2:c.86G>A, NM_001127205.1:c.86G>A, XM_024450250.2:c.86G>A, XM_024450250.1:c.86G>A, NM_001286270.2:c.86G>A, NM_001286270.1:c.86G>A, NM_001286267.1:c.248G>A, NM_001286267.2:c.248G>A, NP_002125.3:p.Arg29Lys, XP_016878685.1:p.Arg29Lys, NP_001120678.1:p.Arg29Lys, NP_001120676.1:p.Arg29Lys, NP_001273197.1:p.Arg29Lys, NP_001273198.1:p.Arg29Lys, NP_001120677.1:p.Arg29Lys, XP_024306018.1:p.Arg29Lys, NP_001273199.1:p.Arg29Lys, NP_001273196.1:p.Arg83Lys

Select item 144423075918.

rs1444230759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4508066 (GRCh38)
16:4558067 (GRCh37)
Canonical SPDI:: NC_000016.10:4508065:C:T
Gene:: HMOX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4508066C>T, NC_000016.9:g.4558067C>T, NT_187608.1:g.210389C>T, NM_002134.4:c.558C>T, NM_002134.3:c.558C>T, XM_017023196.3:c.558C>T, XM_017023196.2:c.558C>T, XM_017023196.1:c.558C>T, NM_001127206.3:c.558C>T, NM_001127206.2:c.558C>T, NM_001127206.1:c.558C>T, NM_001127204.2:c.558C>T, NM_001127204.1:c.558C>T, NM_001286268.2:c.558C>T, NM_001286268.1:c.558C>T, NM_001286269.2:c.558C>T, NM_001286269.1:c.558C>T, NM_001127205.2:c.558C>T, NM_001127205.1:c.558C>T, XM_024450250.2:c.558C>T, XM_024450250.1:c.558C>T, NM_001286271.2:c.471C>T, NM_001286271.1:c.471C>T, NM_001286270.2:c.558C>T, NM_001286270.1:c.558C>T, NM_001286267.1:c.720C>T, NM_001286267.2:c.720C>T

Select item 144160948219.

rs1441609482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4509633 (GRCh38)
16:4559634 (GRCh37)
Canonical SPDI:: NC_000016.10:4509632:C:T
Gene:: HMOX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.4509633C>T, NC_000016.9:g.4559634C>T, NT_187608.1:g.211956C>T, NM_002134.4:c.828C>T, NM_002134.3:c.828C>T, XM_017023196.3:c.828C>T, XM_017023196.2:c.828C>T, XM_017023196.1:c.828C>T, NM_001127206.3:c.828C>T, NM_001127206.2:c.828C>T, NM_001127206.1:c.828C>T, NM_001127204.2:c.828C>T, NM_001127204.1:c.828C>T, NM_001286268.2:c.828C>T, NM_001286268.1:c.828C>T, NM_001286269.2:c.828C>T, NM_001286269.1:c.828C>T, NM_001127205.2:c.828C>T, NM_001127205.1:c.828C>T, XM_024450250.2:c.828C>T, XM_024450250.1:c.828C>T, NM_001286271.2:c.741C>T, NM_001286271.1:c.741C>T, NM_001286270.2:c.828C>T, NM_001286270.1:c.828C>T, NM_001286267.1:c.990C>T, NM_001286267.2:c.990C>T

Select item 144150562420.

rs1441505624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:4508185 (GRCh38)
16:4558186 (GRCh37)
Canonical SPDI:: NC_000016.10:4508184:C:G
Gene:: HMOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4508185C>G, NC_000016.9:g.4558186C>G, NT_187608.1:g.210508C>G, NM_002134.4:c.677C>G, NM_002134.3:c.677C>G, XM_017023196.3:c.677C>G, XM_017023196.2:c.677C>G, XM_017023196.1:c.677C>G, NM_001127206.3:c.677C>G, NM_001127206.2:c.677C>G, NM_001127206.1:c.677C>G, NM_001127204.2:c.677C>G, NM_001127204.1:c.677C>G, NM_001286268.2:c.677C>G, NM_001286268.1:c.677C>G, NM_001286269.2:c.677C>G, NM_001286269.1:c.677C>G, NM_001127205.2:c.677C>G, NM_001127205.1:c.677C>G, XM_024450250.2:c.677C>G, XM_024450250.1:c.677C>G, NM_001286271.2:c.590C>G, NM_001286271.1:c.590C>G, NM_001286270.2:c.677C>G, NM_001286270.1:c.677C>G, NM_001286267.1:c.839C>G, NM_001286267.2:c.839C>G, NP_002125.3:p.Ala226Gly, XP_016878685.1:p.Ala226Gly, NP_001120678.1:p.Ala226Gly, NP_001120676.1:p.Ala226Gly, NP_001273197.1:p.Ala226Gly, NP_001273198.1:p.Ala226Gly, NP_001120677.1:p.Ala226Gly, XP_024306018.1:p.Ala226Gly, NP_001273200.1:p.Ala197Gly, NP_001273199.1:p.Ala226Gly, NP_001273196.1:p.Ala280Gly

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